A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747168



Internal ID9981452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25370973..25371705hg38UCSC Ensembl
Outerchr13:25945111..25945843hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966007, essv6949209, essv6920341, essv6783684, essv6732258, essv6823761, essv6924468, essv6685195, essv6728457, essv6827856, essv6876773, essv6773420, essv6940481, essv6831435, essv6873776, essv6791978, essv6894770, essv6931981, essv6815571, essv6668284, essv6724625, essv6807043, essv6959481, essv6851406, essv6716928, essv6905022, essv6846047, essv6972317, essv6977460, essv6695697, essv6772195, essv6673355, essv6912738, essv6970955, essv6800353, essv6741185, essv6739342, essv6857414
SamplesSSM008, SSM027, SSM024, SSM045, SSM046, SSM079, SSM065, SSM087, SSM013, SSM009, SSM028, SSM092, SSM047, SSM018, SSM029, SSM026, SSM017, SSM031, SSM086, SSM085, SSM068, SSM081, SSM072, SSM020, SSM007, SSM015, SSM080, SSM037, SSM077, SSM022, SSM091, SSM070, SSM034, SSM004, SSM043, SSM052, SSM098, SSM030
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)esv2747168
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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