A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12178778



Internal ID3382363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3017965..3021817hg38UCSC Ensembl
Innerchr6:3018011..3021771hg38UCSC Ensembl
Outerchr6:3017919..3021863hg38UCSC Ensembl
chr6:3018199..3022051hg19UCSC Ensembl
Innerchr6:3018245..3022005hg19UCSC Ensembl
Outerchr6:3018153..3022097hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg383853
hg193853
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607919
Supporting Variants
SamplesHG03027
Known GenesHTATSF1P2, NQO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12178778
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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