A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674198



Internal ID9940303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11739420..11739757hg38UCSC Ensembl
chr8:11596929..11597266hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5806646, essv6510476, essv5644082, essv5764494, essv6321153, essv5981973, essv6305286, essv6374069, essv5734490, essv6520890, essv6330392, essv6191725, essv6040426, essv5464652, essv6564435, essv5652560, essv6062805, essv6262322, essv5790073, essv6035052, essv6568971, essv6030034, essv6095622, essv6404720, essv6254356, essv6376482, essv6004642, essv6249453
SamplesHG01359, NA12045, NA18486, NA19684, NA19443, NA19382, NA18960, HG01083, NA19138, NA18498, NA19238, NA19235, NA19172, NA19210, NA19152, NA19391, NA19455, NA19449, NA18499, NA12249, NA12892, NA19225, HG00473, NA19376, NA19116, NA18505, NA19463, NA18522
Known GenesGATA4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674198
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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