A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728902



Internal ID10312538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:184961887..184962827hg38UCSC Ensembl
Outerchr4:185883041..185883981hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38941
hg19941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754240, essv6829855, essv6963110, essv6840904, essv6790163, essv6974137, essv6951537, essv6926504, essv6938638, essv6748474, essv6736694, essv6817767, essv6739658, essv6910971, essv6786045, essv6774307, essv6734122, essv6914781, essv6957873, essv6956403, essv6701488, essv6751325, essv6930100, essv6875432, essv6925096, essv6745666, essv6725965, essv6742854, essv6942955, essv6711517, essv6777831, essv6968977, essv6903415, essv6680079, essv6865176, essv6757309, essv6715173, essv6823410, essv6947463, essv6861708, essv6730545, essv6833466, essv6865174, essv6670568, essv6885197
SamplesSSM008, SSM027, SSM024, SSM013, SSM050, SSM042, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM047, SSM069, SSM029, SSM026, SSM089, SSM019, SSM003, SSM031, SSM067, SSM033, SSM066, SSM006, SSM081, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM022, SSM010, SSM055, SSM070, SSM025, SSM004, SSM043, SSM052, SSM049, SSM056, SSM012
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)esv2728902
Frequency
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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