A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5276471



Internal ID8368206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:23137516..23139020hg38UCSC Ensembl
Outerchr19:23320318..23321822hg19UCSC Ensembl
Outerchr19:23112158..23113662hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg381505
hg191505
hg181505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2511687
Supporting Variants
SamplesNA18507
Known GenesZNF730
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)essv5276471
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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