A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5377841



Internal ID8122890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:112547331..112548691hg38UCSC Ensembl
Outerchr4:113468487..113469847hg19UCSC Ensembl
Outerchr4:113687936..113689296hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381361
hg191361
hg181361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2636867
Supporting Variants
SamplesNA18507
Known GenesC4orf21
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)essv5377841
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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