A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12319792



Internal ID1263625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35994175..36001372hg38UCSC Ensembl
Innerchr6:35994325..36001222hg38UCSC Ensembl
Outerchr6:35994025..36001522hg38UCSC Ensembl
chr6:35961952..35969149hg19UCSC Ensembl
Innerchr6:35962102..35968999hg19UCSC Ensembl
Outerchr6:35961802..35969299hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg387198
hg197198
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608697
Supporting Variants
SamplesHG01111
Known GenesSLC26A8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12319792
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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