A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12482571



Internal ID953671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:101170382..101196389hg38UCSC Ensembl
Innerchr6:101170405..101196367hg38UCSC Ensembl
Outerchr6:101170360..101196412hg38UCSC Ensembl
chr6:101618258..101644265hg19UCSC Ensembl
Innerchr6:101618281..101644243hg19UCSC Ensembl
Outerchr6:101618236..101644288hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3826008
hg1926008
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610160
Supporting Variants
SamplesHG00584
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12482571
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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