A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677519



Internal ID9943624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:222200324..222207530hg38UCSC Ensembl
Outerchr1:222199953..222207900hg38UCSC Ensembl
Innerchr1:222373666..222380872hg19UCSC Ensembl
Outerchr1:222373295..222381242hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg387948
hg197948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv99e199
Supporting Variantsessv5695379, essv5517856, essv6097868, essv6385775, essv6478410, essv6004056, essv6111025, essv5707570, essv6224660, essv6215620, essv5888752, essv6210810, essv6243546, essv5521558, essv6212627, essv5565658, essv5459556, essv5647900, essv5971840, essv5624269, essv5709824, essv5680004, essv6168575, essv5862459, essv6077512, essv6525632, essv5398661, essv6493830, essv5451439, essv6112927, essv6344133, essv6393844, essv5609381, essv5742250, essv5935938, essv5667820
SamplesNA19466, NA19399, NA19393, NA19377, NA19373, NA19382, NA19315, NA19313, NA19383, NA19385, NA19471, NA19317, NA19456, NA19347, NA19391, NA19327, NA19452, NA19469, NA19375, NA19440, NA19390, NA19473, NA19435, NA19444, NA19331, NA19380, NA19334, NA19428, NA19311, NA19467, NA19376, NA19398, NA19438, NA19474, NA19312, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677519
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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