A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595735



Internal ID6983053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30275682..30287065hg38UCSC Ensembl
Innerchr3:30276182..30286565hg38UCSC Ensembl
Outerchr3:30274682..30288065hg38UCSC Ensembl
chr3:30317173..30328556hg19UCSC Ensembl
Innerchr3:30317673..30328056hg19UCSC Ensembl
Outerchr3:30316173..30329556hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3811384
hg1911384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10968974, essv10968969, essv10968970, essv10968972, essv10968967, essv10968968, essv10968966, essv10968971, essv10968973
SamplesHG03189, HG03058, HG02334, HG00956, HG03391, HG03437, HG02308, HG01862, HG01805
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595735
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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