A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12519226



Internal ID2521042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118762155..118822668hg38UCSC Ensembl
Innerchr6:118762155..118822668hg38UCSC Ensembl
Outerchr6:118761655..118823168hg38UCSC Ensembl
chr6:119083318..119143831hg19UCSC Ensembl
Innerchr6:119083318..119143831hg19UCSC Ensembl
Outerchr6:119082818..119144331hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3860514
hg1960514
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610526
Supporting Variants
SamplesNA21112
Known GenesLOC100287632, MCM9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12519226
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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