A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2627051



Internal ID8690609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204194673..204195488hg38UCSC Ensembl
Outerchr1:204163801..204164616hg19UCSC Ensembl
Outerchr1:202430424..202431239hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38424
hg19424
hg18424
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5385199
SamplesNA18507
Known GenesKISS1
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)esv2627051
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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