A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725617



Internal ID10309253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:84650326..84653737hg38UCSC Ensembl
Outerchr3:84699477..84702888hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg383412
hg193412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711169, essv6875148, essv6693430, essv6675781, essv6954962, essv6836726, essv6878082, essv6697403, essv6892840, essv6726417, essv6880851, essv6903069, essv6881919, essv6733866, essv6859907, essv6742577, essv6723121, essv6739340, essv6745360, essv6669924, essv6973477, essv6854136, essv6847974, essv6910639
SamplesSSM083, SSM046, SSM087, SSM038, SSM013, SSM093, SSM042, SSM088, SSM092, SSM029, SSM094, SSM032, SSM031, SSM086, SSM007, SSM015, SSM053, SSM037, SSM055, SSM004, SSM052, SSM098, SSM049, SSM012
Known GenesLINC00971
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)esv2725617
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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