A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587946



Internal ID6975369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173574757..173575797hg38UCSC Ensembl
Innerchr1:173574867..173575721hg38UCSC Ensembl
Outerchr1:173574655..173575899hg38UCSC Ensembl
chr1:173543896..173544936hg19UCSC Ensembl
Innerchr1:173544006..173544860hg19UCSC Ensembl
Outerchr1:173543794..173545038hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10188536, essv10188539, essv10188538, essv10188534, essv10188542, essv10188535, essv10188540, essv10188541, essv10188537
SamplesHG03514, NA20339, NA18881, HG03515, HG02952, HG02497, HG03294, HG02332, NA19093
Known GenesSLC9C2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587946
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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