A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5234822



Internal ID8326557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:35683966..35685362hg38UCSC Ensembl
Outerchr17:34010985..34012381hg19UCSC Ensembl
Outerchr17:31035098..31036494hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381397
hg191397
hg181397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2647158
Supporting Variants
SamplesNA18507
Known GenesAP2B1
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)essv5234822
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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