A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598188



Internal ID6638453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151793743..151833279hg38UCSC Ensembl
Innerchr3:151793745..151833278hg38UCSC Ensembl
Outerchr3:151793742..151833281hg38UCSC Ensembl
chr3:151511531..151551067hg19UCSC Ensembl
Innerchr3:151511533..151551066hg19UCSC Ensembl
Outerchr3:151511530..151551069hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3839537
hg1939537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11185967, essv11185966, essv11185959, essv11185968, essv11185956, essv11185954, essv11185969, essv11185952, essv11185957, essv11185955, essv11185963, essv11185961, essv11185970, essv11185965, essv11185960, essv11185971, essv11185964, essv11185958, essv11185953, essv11185962
SamplesNA12489, HG01770, HG01064, HG00310, HG00319, NA12287, HG00269, NA20783, NA12273, HG02239, HG01191, HG00268, HG01991, HG01137, HG02230, HG01945, HG01464, NA19655, NA11829, HG01503
Known GenesAADAC, MIR548H2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598188
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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