A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12540997



Internal ID978159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127402688..127405359hg38UCSC Ensembl
Innerchr6:127402688..127405359hg38UCSC Ensembl
Outerchr6:127402449..127405591hg38UCSC Ensembl
chr6:127723833..127726504hg19UCSC Ensembl
Innerchr6:127723833..127726504hg19UCSC Ensembl
Outerchr6:127723594..127726736hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg382672
hg192672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610723
Supporting Variants
SamplesHG00608
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12540997
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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