A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12171403



Internal ID2173219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:666377..667821hg38UCSC Ensembl
Innerchr6:666527..667671hg38UCSC Ensembl
Outerchr6:666227..667971hg38UCSC Ensembl
chr6:666377..667821hg19UCSC Ensembl
Innerchr6:666527..667671hg19UCSC Ensembl
Outerchr6:666227..667971hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg381445
hg191445
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607860
Supporting Variants
SamplesNA20509
Known GenesEXOC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12171403
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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