A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2675505

Internal ID9594924
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:4022858..4022960hg38UCSC Ensembl
Outerchr18:4022701..4023113hg38UCSC Ensembl
Innerchr18:4022858..4022960hg19UCSC Ensembl
Outerchr18:4022701..4023113hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5669586, essv5762807, essv5980342, essv5972000, essv5405889, essv5732663, essv6395136, essv5769460, essv5602096, essv5803055, essv6466048, essv6089218, essv6493196, essv6054361, essv6383599, essv6052635, essv6303534, essv6309720, essv6268596, essv5621256, essv6047949, essv6210261, essv6418218, essv6201598, essv6576754, essv5479168, essv5610521, essv6549805, essv6180837, essv5944731, essv6268833, essv5979612, essv5704104, essv5742995, essv6045670, essv5989084, essv6479404, essv5926758, essv6421331, essv6042858, essv5887209, essv6379934, essv6112966, essv6136131, essv5796418, essv5514527, essv5841363, essv5719905, essv5625101, essv5601152, essv6478977, essv5723063, essv5966997, essv6067042, essv6532444, essv5783295, essv5860021, essv5757393, essv6209247, essv5672533, essv6457932, essv5916955, essv6473963, essv5477591, essv6306846, essv5440547, essv6223786, essv5620869, essv6173373, essv5813187, essv6134113, essv6002751, essv5451772, essv6183168, essv6449278, essv5397298, essv6370157, essv5594002, essv6066370, essv6026423, essv5692763, essv6272649, essv5491024, essv6154124, essv6321041, essv6256352, essv5429142, essv5614703, essv5862158, essv6489656, essv6125993, essv6364319, essv6057118, essv6312479, essv5945922, essv6522656, essv6179012, essv6261382, essv6151252, essv5679072
SamplesHG00309, HG00313, NA19436, HG00318, HG00344, HG01072, NA19819, HG00328, NA19437, HG00369, HG01083, HG00274, HG00131, HG00310, HG01079, NA10847, HG01389, NA19788, HG01492, HG01488, HG00375, HG00326, NA19920, HG00139, NA18546, NA20588, HG00334, HG01204, HG00280, HG01101, NA18868, NA20586, HG00247, HG01133, HG00342, HG00154, HG00321, HG00339, NA19428, HG00346, HG01384, NA19390, HG00337, HG00140, HG00180, NA18623, HG01061, HG00372, HG01047, NA19397, HG00330, HG00125, HG01136, NA19663, HG00276, HG00284, NA19457, HG00114, HG00306, NA19380, NA19395, NA19372, NA19703, HG00268, HG00325, NA20753, NA12275, HG00260, HG01073, HG00282, HG01170, HG01069, HG01356, HG00249, NA11892, HG01080, HG00329, HG01070, NA18619, NA19138, NA19391, NA20518, HG00138, NA19446, HG01390, NA11992, HG00285, HG01366, HG01108, HG00251, HG00275, HG00324, HG00183, HG01377, HG00143, HG00272, HG00345, NA19065, HG00312, HG00361
Known GenesDLGAP1
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2675505
Sample Size1151
Observed Gain0
Observed Loss100
Observed Complex0

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