A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664538



Internal ID9930643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211486495..211551045hg38UCSC Ensembl
Outerchr2:211486458..211551095hg38UCSC Ensembl
Innerchr2:212351220..212415770hg19UCSC Ensembl
Outerchr2:212351183..212415820hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3864638
hg1964638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5895732, essv6240988
SamplesHG00321, HG00269
Known GenesERBB4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664538
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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