A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10466349



Internal ID2548009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36455100..36461267hg38UCSC Ensembl
Innerchr2:36455108..36461259hg38UCSC Ensembl
Outerchr2:36455092..36461275hg38UCSC Ensembl
chr2:36682243..36688410hg19UCSC Ensembl
Innerchr2:36682251..36688402hg19UCSC Ensembl
Outerchr2:36682235..36688418hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg386168
hg196168
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590393
Supporting Variants
SamplesHG02262
Known GenesCRIM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10466349
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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