A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6512697



Internal ID9490100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237837657..237838049hg38UCSC Ensembl
chr2:238746300..238746692hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2678433
Supporting Variants
SamplesHG01060
Known GenesRBM44
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6512697
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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