A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2429720



Internal ID8146593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:97274577..97278499hg38UCSC Ensembl
Outerchr10:99034334..99038256hg19UCSC Ensembl
Outerchr10:99024324..99028246hg18UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg383923
hg193923
hg183923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5179409
SamplesNA18507
Known GenesARHGAP19, ARHGAP19-SLIT1
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)esv2429720
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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