A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673257



Internal ID9939362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103234872..103237432hg38UCSC Ensembl
chr7:102875319..102877879hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382561
hg192561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5786370, essv6306056, essv5687900, essv6555974, essv6012173, essv5947651, essv6111786, essv6373054, essv6511788, essv5873213, essv5514282, essv6142261, essv6453628, essv5438638, essv6263628, essv5928791, essv6217461, essv5454014, essv5634641, essv6190778, essv5485088, essv5878236, essv5451357, essv5425023, essv6302330
SamplesHG01366, HG00689, NA19088, HG00156, HG00705, HG01048, HG01353, HG01136, NA19657, HG00176, HG01171, NA12342, HG01095, HG00500, HG00613, NA19072, NA12272, HG00312, HG01055, HG00112, HG00131, NA19900, NA19661, HG00595, NA19676
Known GenesDPY19L2P2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673257
Frequency
Sample Size1151
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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