A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12387744



Internal ID4795396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:61634059..61680857hg38UCSC Ensembl
chr6:62343964..62390762hg19UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg3846799
hg1946799
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609211
Supporting Variants
SamplesNA11931
Known GenesKHDRBS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12387744
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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