A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590854



Internal ID6978182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55367174..55368255hg38UCSC Ensembl
Innerchr2:55367174..55368255hg38UCSC Ensembl
Outerchr2:55367151..55368280hg38UCSC Ensembl
chr2:55594310..55595391hg19UCSC Ensembl
Innerchr2:55594310..55595391hg19UCSC Ensembl
Outerchr2:55594287..55595416hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381082
hg191082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10512203, essv10512202
SamplesHG00173, NA19713
Known GenesCCDC88A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590854
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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