A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5359243



Internal ID8104292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26357512..26359067hg38UCSC Ensembl
Outerchr12:26510445..26512000hg19UCSC Ensembl
Outerchr12:26401712..26403267hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381556
hg191556
hg181556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2579102
Supporting Variants
SamplesNA18507
Known GenesITPR2
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)essv5359243
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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