A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609214



Internal ID6996136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:61722336..61754326hg38UCSC Ensembl
chr6:62432241..62464231hg19UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg3831991
hg1931991
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12387756, essv12387755
SamplesNA12342, HG00101
Known GenesKHDRBS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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