A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626206



Internal ID7013040
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14121322
SamplesHG00149
Known GenesMTCH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626206
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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