A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740010



Internal ID9974352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:23974798..24136109hg38UCSC Ensembl
OuterchrX:23992915..24154226hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38161312
hg19161312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6811690, essv6830640, essv6802929, essv6754923, essv6667825, essv6751968, essv6975677, essv6760394, essv6775026, essv6829431, essv6957838, essv6716015, essv6884582, essv6746280, essv6822893, essv6849903, essv6719919, essv6757708, essv6855946, essv6826910, essv6969922, essv6975678, essv6892166, essv6965217, essv6944008, essv6900082, essv6765304, essv6859398, essv6939525, essv6680873
SamplesSSM100, SSM059, SSM011, SSM079, SSM087, SSM073, SSM057, SSM023, SSM058, SSM028, SSM061, SSM029, SSM026, SSM044, SSM086, SSM033, SSM066, SSM081, SSM080, SSM076, SSM022, SSM010, SSM055, SSM095, SSM004, SSM043, SSM030, SSM063, SSM012
Known GenesEIF2S3, KLHL15
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2740010
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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