A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657788



Internal ID9923893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:32750903..32751073hg38UCSC Ensembl
Outerchr1:32750746..32751226hg38UCSC Ensembl
Innerchr1:33216504..33216674hg19UCSC Ensembl
Outerchr1:33216347..33216827hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6228999, essv5583786, essv5650378, essv6083139, essv5756695, essv6228733, essv6134224
SamplesHG00536, NA18603, HG00702, HG00701, HG00500, HG00656, NA18624
Known GenesKIAA1522
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657788
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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