A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594176



Internal ID6981496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:211486471..211551060hg38UCSC Ensembl
Innerchr2:211486499..211551032hg38UCSC Ensembl
Outerchr2:211486443..211551088hg38UCSC Ensembl
chr2:212351196..212415785hg19UCSC Ensembl
Innerchr2:212351224..212415757hg19UCSC Ensembl
Outerchr2:212351168..212415813hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3864590
hg1964590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10835610, essv10835612, essv10835611
SamplesHG00321, HG00269, HG00105
Known GenesERBB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594176
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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