A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740003



Internal ID10323639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:21858258..21859577hg38UCSC Ensembl
OuterchrX:21876376..21877695hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg381320
hg191320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932684, essv6829420, essv6965206, essv6731349, essv6892155, essv6680870, essv6749105, essv6732332, essv6876098, essv6754922, essv6957836, essv6904189, essv6716013, essv6799476, essv6855945, essv6915501, essv6964531
SamplesSSM027, SSM087, SSM013, SSM009, SSM058, SSM092, SSM047, SSM026, SSM003, SSM033, SSM007, SSM016, SSM010, SSM004, SSM043, SSM056, SSM012
Known GenesMBTPS2, YY2
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)esv2740003
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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