A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588039



Internal ID6975463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178690492..178707106hg38UCSC Ensembl
Innerchr1:178690495..178707103hg38UCSC Ensembl
Outerchr1:178690489..178707109hg38UCSC Ensembl
chr1:178659627..178676241hg19UCSC Ensembl
Innerchr1:178659630..178676238hg19UCSC Ensembl
Outerchr1:178659624..178676244hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3816615
hg1916615
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10195530, essv10195535, essv10195541, essv10195548, essv10195536, essv10195542, essv10195539, essv10195528, essv10195527, essv10195546, essv10195544, essv10195547, essv10195532, essv10195531, essv10195538, essv10195533, essv10195529, essv10195540, essv10195545, essv10195534, essv10195537, essv10195549, essv10195543
SamplesNA19394, HG03558, HG03115, HG03100, HG02621, HG03352, HG03343, NA19210, NA19984, HG03457, HG02757, HG02555, HG03476, HG02979, HG01890, NA19160, HG01990, HG02839, HG03313, NA19121, NA18488, HG02284, HG03118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588039
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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