A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12408787



Internal ID1224189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69084735..69087731hg38UCSC Ensembl
Innerchr6:69084745..69087721hg38UCSC Ensembl
Outerchr6:69084725..69087741hg38UCSC Ensembl
chr6:69794627..69797623hg19UCSC Ensembl
Innerchr6:69794637..69797613hg19UCSC Ensembl
Outerchr6:69794617..69797633hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg382997
hg192997
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609401
Supporting Variants
SamplesHG01086
Known GenesBAI3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12408787
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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