A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10680785



Internal ID2292476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133430910..133441772hg38UCSC Ensembl
Innerchr2:133431060..133441622hg38UCSC Ensembl
Outerchr2:133430760..133441922hg38UCSC Ensembl
chr2:134188481..134199343hg19UCSC Ensembl
Innerchr2:134188631..134199193hg19UCSC Ensembl
Outerchr2:134188331..134199493hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3810863
hg1910863
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592532
Supporting Variants
SamplesHG02050
Known GenesMIR7853, NCKAP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10680785
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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