A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740586



Internal ID10324222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:148015900..148016221hg38UCSC Ensembl
OuterchrX:147097420..147097741hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6935297, essv6795243, essv6786999, essv6952483, essv6904252, essv6687728, essv6939583, essv6856053, essv6719993, essv6767963, essv6834274, essv6760452, essv6731406, essv6723805, essv6841762, essv6782785, essv6975785, essv6892787, essv6737379, essv6808827
SamplesSSM071, SSM075, SSM045, SSM064, SSM087, SSM013, SSM050, SSM084, SSM021, SSM047, SSM069, SSM061, SSM029, SSM035, SSM044, SSM068, SSM082, SSM022, SSM025, SSM012
Known GenesFMR1NB
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)esv2740586
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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