A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728410



Internal ID10312046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:138045016..138046095hg38UCSC Ensembl
Outerchr4:138966170..138967249hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748432, essv6715110, essv6751279, essv6942890, essv6745607, essv6930038, essv6770399, essv6764745, essv6810992, essv6759707, essv6875386, essv6693750, essv6781807, essv6805108, essv6754190, essv6736645, essv6926459, essv6686906, essv6823009, essv6910916, essv6907082, essv6893120, essv6883917, essv6844597, essv6762380, essv6725465, essv6704644, essv6881127, essv6934254, essv6837050, essv6947404, essv6854606, essv6726745, essv6852031, essv6813970, essv6903361, essv6833415, essv6865107, essv6790107, essv6676127, essv6918332, essv6701155
SamplesSSM083, SSM024, SSM046, SSM011, SSM065, SSM087, SSM013, SSM050, SSM074, SSM057, SSM023, SSM058, SSM092, SSM021, SSM061, SSM062, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM014, SSM006, SSM085, SSM068, SSM040, SSM082, SSM020, SSM007, SSM015, SSM037, SSM077, SSM076, SSM010, SSM055, SSM070, SSM095, SSM043, SSM098, SSM056, SSM063
Known GenesLINC00616
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)esv2728410
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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