A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14009301



Internal ID4011117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6624915..6625274hg38UCSC Ensembl
Innerchr11:6624924..6625265hg38UCSC Ensembl
Outerchr11:6624906..6625283hg38UCSC Ensembl
chr11:6646146..6646505hg19UCSC Ensembl
Innerchr11:6646155..6646496hg19UCSC Ensembl
Outerchr11:6646137..6646514hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625267
Supporting Variants
SamplesNA12751
Known GenesDCHS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14009301
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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