A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10695706



Internal ID697522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143300990..143312817hg38UCSC Ensembl
Innerchr2:143300990..143312817hg38UCSC Ensembl
Outerchr2:143300490..143313317hg38UCSC Ensembl
chr2:144058559..144070386hg19UCSC Ensembl
Innerchr2:144058559..144070386hg19UCSC Ensembl
Outerchr2:144058059..144070886hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3811828
hg1911828
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592753
Supporting Variants
SamplesHG03705
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10695706
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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