A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5370210



Internal ID8461945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:56629174..56630698hg38UCSC Ensembl
Outerchr1:57094847..57096371hg19UCSC Ensembl
Outerchr1:56867435..56868959hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381525
hg191525
hg181525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2519231
Supporting Variants
SamplesNA18507
Known Genes
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)essv5370210
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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