A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585122



Internal ID6972646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7292550..7314290hg38UCSC Ensembl
Innerchr1:7292605..7314235hg38UCSC Ensembl
Outerchr1:7292495..7314345hg38UCSC Ensembl
chr1:7352610..7374350hg19UCSC Ensembl
Innerchr1:7352665..7374295hg19UCSC Ensembl
Outerchr1:7352555..7374405hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3821741
hg1921741
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9846667
SamplesHG01883
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585122
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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