A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656873



Internal ID9922978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6704900..6715856hg38UCSC Ensembl
Outerchr12:6704529..6716226hg38UCSC Ensembl
Innerchr12:6814066..6825022hg19UCSC Ensembl
Outerchr12:6813695..6825392hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3811698
hg1911698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv257e199
Supporting Variantsessv5873059, essv6004384, essv6585532, essv6322935, essv5635528, essv5577382, essv6225971, essv5909386, essv5573847, essv5497442
SamplesHG00626, HG00403, HG00610, HG00629, HG00583, HG00692, HG00625, HG00578, HG00421, HG00628
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656873
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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