A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5230133



Internal ID7975182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:55935093..55936677hg38UCSC Ensembl
Outerchr1:56400766..56402350hg19UCSC Ensembl
Outerchr1:56173354..56174938hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381585
hg191585
hg181585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2614647
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)essv5230133
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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