A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665938



Internal ID9932043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146436673..146442437hg38UCSC Ensembl
chr7:146133765..146139529hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg385765
hg195765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5813924, essv5607264, essv5733414, essv6120098, essv5738424, essv5521794, essv5465826, essv6293196, essv6568849, essv5823561, essv5911923, essv5537634, essv6598240, essv6111729, essv6198337, essv6434576, essv6181192, essv6573921, essv5666764, essv5778848, essv5401003
SamplesNA19332, NA18507, NA19190, NA19374, NA19382, NA19448, NA18916, HG01083, NA19137, NA19172, NA19456, NA19707, NA18516, HG01390, NA19114, NA18499, NA18856, NA18517, NA19428, NA19716, NA19093
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665938
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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