A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615311



Internal ID7002200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143846505..143863500hg38UCSC Ensembl
chr7:143543598..143560593hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3816996
hg1916996
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1332e214
Supporting Variantsessv12995032, essv12995025, essv12995037, essv12995028, essv12995041, essv12995034, essv12995038, essv12995035, essv12995039, essv12995042, essv12995033, essv12995027, essv12995026, essv12995030, essv12995031, essv12995024, essv12995029, essv12995043, essv12995036, essv12995044, essv12995040
SamplesHG02574, HG03115, HG03499, HG00674, HG02756, HG02471, NA20342, HG00675, HG03291, HG01882, HG03123, NA18499, HG02256, HG01990, NA18608, HG02330, NA19147, HG02721, NA18941, NA19428, HG02805
Known GenesFAM115A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615311
Frequency
Sample Size2504
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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