A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10568558



Internal ID1973309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84869175..84875373hg38UCSC Ensembl
Innerchr2:84869225..84875323hg38UCSC Ensembl
Outerchr2:84869075..84875473hg38UCSC Ensembl
chr2:85096299..85102497hg19UCSC Ensembl
Innerchr2:85096349..85102447hg19UCSC Ensembl
Outerchr2:85096199..85102597hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg386199
hg196199
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591522
Supporting Variants
SamplesHG01840
Known GenesTRABD2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10568558
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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