A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2523201



Internal ID8240073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:83636559..83643788hg38UCSC Ensembl
Outerchr16:83670164..83677393hg19UCSC Ensembl
Outerchr16:82227665..82234894hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg387230
hg197230
hg187230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5290910
SamplesNA18507
Known GenesCDH13
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)esv2523201
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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