A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10888663



Internal ID2686551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238943688..238952207hg38UCSC Ensembl
Innerchr2:238943688..238952207hg38UCSC Ensembl
Outerchr2:238943448..238952430hg38UCSC Ensembl
chr2:239865384..239873903hg19UCSC Ensembl
Innerchr2:239865384..239873903hg19UCSC Ensembl
Outerchr2:239865144..239874126hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg388520
hg198520
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594774
Supporting Variants
SamplesHG02379
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10888663
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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