A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10672871



Internal ID674687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130282861..130401532hg38UCSC Ensembl
chr2:131040434..131159105hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38118672
hg19118672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592450
Supporting Variants
SamplesHG01353
Known GenesCCDC115, IMP4, PTPN18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10672871
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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