A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12482207



Internal ID2801236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:101034657..101039134hg38UCSC Ensembl
Innerchr6:101035157..101038634hg38UCSC Ensembl
Outerchr6:101033657..101040134hg38UCSC Ensembl
chr6:101482533..101487010hg19UCSC Ensembl
Innerchr6:101483033..101486510hg19UCSC Ensembl
Outerchr6:101481533..101488010hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg384478
hg194478
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610157
Supporting Variants
SamplesHG02476
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12482207
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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