A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721561



Internal ID9955857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:202204666..202205349hg38UCSC Ensembl
Outerchr1:202173794..202174477hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38684
hg19684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6722140, essv6925828, essv6797612, essv6950704, essv6832727, essv6789309, essv6781036, essv6710730, essv6769673, essv6825138, essv6840107, essv6929219, essv6703990, essv6714395, essv6836328, essv6686282, essv6968094, essv6669200, essv6972625, essv6692934, essv6954986, essv6933459, essv6689394, essv6718295, essv6726002, essv6773591, essv6679324, essv6902681
SamplesSSM065, SSM013, SSM082, SSM036, SSM033, SSM084, SSM042, SSM040, SSM043, SSM031, SSM035, SSM025, SSM072, SSM020, SSM045, SSM083, SSM066, SSM028, SSM029, SSM021, SSM037, SSM046, SSM019, SSM068, SSM044, SSM026, SSM070, SSM080
Known GenesLGR6
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)esv2721561
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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