A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612706



Internal ID6999606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30099179..30107776hg38UCSC Ensembl
chr7:30138795..30147392hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg388598
hg198598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12717975, essv12717973, essv12717977, essv12717969, essv12717970, essv12717974, essv12717976, essv12717971, essv12717972, essv12717964, essv12717968, essv12717963, essv12717965, essv12717966, essv12717967
SamplesHG03366, NA19204, HG02804, HG03091, NA19159, HG01139, NA19984, HG03294, HG01390, HG03397, HG03367, NA19380, NA19711, HG02808, HG03303
Known GenesPLEKHA8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612706
Frequency
Sample Size2504
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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