A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10568098



Internal ID2182288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84686649..84695571hg38UCSC Ensembl
Innerchr2:84687149..84695071hg38UCSC Ensembl
Outerchr2:84685649..84696571hg38UCSC Ensembl
chr2:84913773..84922695hg19UCSC Ensembl
Innerchr2:84914273..84922195hg19UCSC Ensembl
Outerchr2:84912773..84923695hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg388923
hg198923
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591519
Supporting Variants
SamplesHG01971
Known GenesDNAH6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10568098
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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