A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12172050



Internal ID4399831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1000670..1020400hg38UCSC Ensembl
Innerchr6:1000670..1020400hg38UCSC Ensembl
Outerchr6:1000170..1020900hg38UCSC Ensembl
chr6:1000905..1020635hg19UCSC Ensembl
Innerchr6:1000905..1020635hg19UCSC Ensembl
Outerchr6:1000405..1021135hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3819731
hg1919731
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607877
Supporting Variants
SamplesHG03917
Known GenesLOC285768
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12172050
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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