A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499229



Internal ID6598135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:107297256..107302426hg38UCSC Ensembl
Innerchr6:107297290..107302392hg38UCSC Ensembl
Outerchr6:107297222..107302460hg38UCSC Ensembl
chr6:107618460..107623630hg19UCSC Ensembl
Innerchr6:107618494..107623596hg19UCSC Ensembl
Outerchr6:107618426..107623664hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385171
hg195171
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610298
Supporting Variants
SamplesNA20770
Known GenesPDSS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499229
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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