A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728023



Internal ID10311659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:97433119..97438077hg38UCSC Ensembl
Outerchr4:98354270..98359228hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg384959
hg194959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700933, essv6777739, essv6899325, essv6903319, essv6875348, essv6837018, essv6825926, essv6938541, essv6840822, essv6968876, essv6718970, essv6762355, essv6844566, essv6730450, essv6767178, essv6869370, essv6878280, essv6854531, essv6817619, essv6751236, essv6726697, essv6926433, essv6683590, essv6889776, essv6934219
SamplesSSM100, SSM083, SSM046, SSM064, SSM087, SSM097, SSM013, SSM093, SSM057, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM062, SSM019, SSM067, SSM044, SSM006, SSM085, SSM078, SSM080, SSM022, SSM034
Known GenesSTPG2-AS1
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)esv2728023
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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