A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5223002



Internal ID8314737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63964043..63966348hg38UCSC Ensembl
Outerchr20:62595396..62597701hg19UCSC Ensembl
Outerchr20:62065840..62068145hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382306
hg192306
hg182306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2639361
Supporting Variants
SamplesNA18507
Known GenesZNF512B
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)essv5223002
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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