A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5370067



Internal ID8115116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236755490..236757581hg38UCSC Ensembl
Outerchr1:236918790..236920881hg19UCSC Ensembl
Outerchr1:234985413..234987504hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg382092
hg192092
hg182092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2641685
Supporting Variants
SamplesNA18507
Known GenesACTN2
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)essv5370067
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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