A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2614694



Internal ID8331566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147818235..147819582hg38UCSC Ensembl
Outerchr7:147515327..147516674hg19UCSC Ensembl
Outerchr7:147146260..147147607hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381348
hg191348
hg181348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5317191
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)esv2614694
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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