A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740030



Internal ID10323666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:27210016..27211021hg38UCSC Ensembl
OuterchrX:27228133..27229138hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg381006
hg191006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740392, essv6887406, essv6849906, essv6771314, essv6818782, essv6671863, essv6751972, essv6975682, essv6680875, essv6754929, essv6932707, essv6855951, essv6866196, essv6799521, essv6706687, essv6957843, essv6892199, essv6964538, essv6760397, essv6861455
SamplesSSM027, SSM065, SSM087, SSM009, SSM088, SSM057, SSM058, SSM061, SSM029, SSM096, SSM026, SSM089, SSM003, SSM031, SSM086, SSM033, SSM006, SSM078, SSM052, SSM012
Known Genes
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)esv2740030
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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