A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739992



Internal ID9974334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:17484336..17485244hg38UCSC Ensembl
OuterchrX:17502459..17503367hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38909
hg19909
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6930989, essv6716011, essv6876096, essv6911811, essv6667820, essv6855940, essv6965184, essv6944007, essv6778721, essv6775025, essv6698234, essv6740388, essv6939521, essv6935249, essv6948321, essv6732310, essv6919384, essv6723737, essv6799454, essv6892132, essv6964529, essv6957833, essv6771308, essv6915500, essv6975670, essv6765164
SamplesSSM008, SSM027, SSM024, SSM045, SSM065, SSM087, SSM038, SSM009, SSM023, SSM092, SSM021, SSM029, SSM026, SSM017, SSM067, SSM066, SSM020, SSM007, SSM015, SSM016, SSM022, SSM004, SSM043, SSM052, SSM030, SSM012
Known GenesNHS
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)esv2739992
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer