A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12574638



Internal ID4003820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:142906001..142908827hg38UCSC Ensembl
Innerchr6:142906051..142908777hg38UCSC Ensembl
Outerchr6:142905951..142908877hg38UCSC Ensembl
chr6:143227138..143229964hg19UCSC Ensembl
Innerchr6:143227188..143229914hg19UCSC Ensembl
Outerchr6:143227088..143230014hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg382827
hg192827
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611085
Supporting Variants
SamplesHG03653
Known GenesHIVEP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12574638
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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