A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669783



Internal ID9935888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221498888..221501377hg38UCSC Ensembl
chr1:221672230..221674719hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382490
hg192490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5533267, essv5462520, essv6178898, essv5612082, essv6482282, essv5715335, essv5990033, essv6278458, essv6268188, essv6488879, essv5636510, essv6226886, essv6201662, essv5959636, essv6188509, essv5720042, essv5419145, essv6008681, essv6568355, essv6567719, essv6011329, essv6281698, essv6302024, essv5675297, essv6272098, essv5515855, essv6089416, essv6413754, essv5947900, essv5565338, essv5829592, essv5666800, essv5517164
SamplesHG00626, HG00542, HG00536, HG00559, HG00524, NA18599, HG00699, NA18596, NA18627, NA18558, NA18547, NA18611, HG00683, HG00419, NA19007, NA18614, NA18544, NA18613, HG00629, NA18538, HG00428, HG00653, NA18956, HG00635, HG00525, NA19059, NA18535, NA19072, HG00607, NA18610, HG00578, NA18984, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669783
Frequency
Sample Size1151
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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