A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12183025



Internal ID819852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7805995..7835061hg38UCSC Ensembl
Innerchr6:7806145..7834911hg38UCSC Ensembl
Outerchr6:7805845..7835211hg38UCSC Ensembl
chr6:7806228..7835294hg19UCSC Ensembl
Innerchr6:7806378..7835144hg19UCSC Ensembl
Outerchr6:7806078..7835444hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3829067
hg1929067
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608017
Supporting Variants
SamplesHG00406
Known GenesBMP6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12183025
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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