A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10595547



Internal ID3132532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99736630..99739635hg38UCSC Ensembl
Innerchr2:99736637..99739629hg38UCSC Ensembl
Outerchr2:99736624..99739642hg38UCSC Ensembl
chr2:100353092..100356097hg19UCSC Ensembl
Innerchr2:100353099..100356091hg19UCSC Ensembl
Outerchr2:100353086..100356104hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383006
hg193006
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591740
Supporting Variants
SamplesHG02760
Known GenesAFF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10595547
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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