A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585763



Internal ID6973284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38136850..38139121hg38UCSC Ensembl
Innerchr1:38136851..38139121hg38UCSC Ensembl
Outerchr1:38136850..38139122hg38UCSC Ensembl
chr1:38602522..38604793hg19UCSC Ensembl
Innerchr1:38602523..38604793hg19UCSC Ensembl
Outerchr1:38602522..38604794hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382272
hg192272
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9914498, essv9914516, essv9914490, essv9914525, essv9914492, essv9914493, essv9914524, essv9914497, essv9914505, essv9914495, essv9914496, essv9914526, essv9914499, essv9914521, essv9914504, essv9914512, essv9914514, essv9914503, essv9914518, essv9914507, essv9914529, essv9914491, essv9914522, essv9914515, essv9914510, essv9914520, essv9914517, essv9914509, essv9914500, essv9914501, essv9914511, essv9914531, essv9914527, essv9914528, essv9914494, essv9914506, essv9914508, essv9914530, essv9914523, essv9914502, essv9914519, essv9914513
SamplesNA20762, HG00142, HG01438, NA12814, HG01389, NA20752, NA19669, NA12750, HG01694, HG03782, HG01325, NA11918, NA20513, HG00120, HG01767, HG01308, HG00182, HG01133, NA12828, HG00313, HG00731, HG01187, HG00380, HG00245, HG00132, NA20832, HG01047, NA11919, HG00350, HG00157, NA12144, HG00099, NA20534, NA20296, HG03790, HG00119, HG01685, HG01631, NA12890, HG01566, NA12154, HG01747
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585763
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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