A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740088



Internal ID10323724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:36371538..36371881hg38UCSC Ensembl
OuterchrX:36389653..36389996hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6930996, essv6822899, essv6845379, essv6682277, essv6944014, essv6731354, essv6799554, essv6855957, essv6708851, essv6771316, essv6859431, essv6749110, essv6751977, essv6805829
SamplesSSM011, SSM079, SSM065, SSM087, SSM009, SSM074, SSM041, SSM057, SSM023, SSM047, SSM085, SSM020, SSM005, SSM056
Known GenesCXorf30
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)esv2740088
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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