A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5235230



Internal ID7980279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1591837..1593680hg38UCSC Ensembl
Outerchr10:1634032..1635875hg19UCSC Ensembl
Outerchr10:1624032..1625875hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381844
hg191844
hg181844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2505756
Supporting Variants
SamplesNA18507
Known GenesADARB2
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)essv5235230
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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