A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2459868



Internal ID8523426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36958191..36960894hg38UCSC Ensembl
Outerchr1:37423792..37426495hg19UCSC Ensembl
Outerchr1:37196379..37199082hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382704
hg192704
hg182704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5370743
SamplesNA18507
Known GenesGRIK3
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)esv2459868
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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