A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587951



Internal ID6975374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174003122..174007115hg38UCSC Ensembl
Innerchr1:174003129..174007109hg38UCSC Ensembl
Outerchr1:174003116..174007122hg38UCSC Ensembl
chr1:173972260..173976253hg19UCSC Ensembl
Innerchr1:173972267..173976247hg19UCSC Ensembl
Outerchr1:173972254..173976260hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383994
hg193994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10188578, essv10188579, essv10188580
SamplesNA19072, NA18957, NA19004
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587951
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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