A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594748



Internal ID6635024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237645335..237650573hg38UCSC Ensembl
Innerchr2:237645347..237650562hg38UCSC Ensembl
Outerchr2:237645324..237650585hg38UCSC Ensembl
chr2:238553978..238559216hg19UCSC Ensembl
Innerchr2:238553990..238559205hg19UCSC Ensembl
Outerchr2:238553967..238559228hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385239
hg195239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10887260, essv10887259, essv10887257, essv10887244, essv10887250, essv10887241, essv10887255, essv10887251, essv10887246, essv10887254, essv10887245, essv10887258, essv10887253, essv10887240, essv10887256, essv10887247, essv10887242, essv10887249, essv10887243, essv10887248, essv10887252
SamplesHG04131, HG01515, HG00734, HG01130, HG00274, HG00368, HG00326, HG01182, HG01577, NA12414, HG00339, HG00096, HG02557, HG01455, HG01257, HG00103, HG01162, HG00367, NA20528, HG00336, HG00107
Known GenesLRRFIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594748
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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