A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610934



Internal ID6997850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137046593..137100086hg38UCSC Ensembl
chr6:137367730..137421223hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3853494
hg1953494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12565379, essv12565367, essv12565384, essv12565388, essv12565375, essv12565385, essv12565393, essv12565382, essv12565378, essv12565389, essv12565390, essv12565387, essv12565374, essv12565369, essv12565377, essv12565383, essv12565386, essv12565368, essv12565376, essv12565392, essv12565372, essv12565366, essv12565391, essv12565380, essv12565370, essv12565373, essv12565381, essv12565371
SamplesHG03515, NA18870, NA19678, NA19307, NA20756, NA19023, NA19404, NA20340, NA19372, NA19024, NA18864, HG03267, NA19456, NA19200, HG03363, HG02429, HG01130, HG03354, NA19035, HG02611, NA19310, HG02464, HG03557, NA19438, HG03279, NA19900, HG01886, NA19429
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610934
Frequency
Sample Size2504
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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