A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2524864



Internal ID8241736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:146842419..146843965hg38UCSC Ensembl
Outerchr7:146539511..146541057hg19UCSC Ensembl
Outerchr7:146170444..146171990hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381547
hg191547
hg181547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5213866
SamplesNA18507
Known GenesCNTNAP2
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2524864
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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