A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10679949



Internal ID681765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:132899712..132953048hg38UCSC Ensembl
Innerchr2:132899727..132953034hg38UCSC Ensembl
Outerchr2:132899698..132953063hg38UCSC Ensembl
chr2:133657285..133710621hg19UCSC Ensembl
Innerchr2:133657300..133710607hg19UCSC Ensembl
Outerchr2:133657271..133710636hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3853337
hg1953337
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592515
Supporting Variants
SamplesHG03652
Known GenesMIR7853, NCKAP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10679949
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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