A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592753



Internal ID6633036
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10695706
SamplesHG03705
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592753
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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