A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14121322



Internal ID466355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47632606..47635004hg38UCSC Ensembl
Innerchr11:47632656..47634954hg38UCSC Ensembl
Outerchr11:47632556..47635054hg38UCSC Ensembl
chr11:47654158..47656556hg19UCSC Ensembl
Innerchr11:47654208..47656506hg19UCSC Ensembl
Outerchr11:47654108..47656606hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382399
hg192399
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626206
Supporting Variants
SamplesHG00149
Known GenesMTCH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14121322
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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