A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611212



Internal ID6998123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149668180..149674288hg38UCSC Ensembl
Innerchr6:149668180..149674288hg38UCSC Ensembl
Outerchr6:149667698..149674621hg38UCSC Ensembl
chr6:149989316..149995424hg19UCSC Ensembl
Innerchr6:149989316..149995424hg19UCSC Ensembl
Outerchr6:149988834..149995757hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg386109
hg196109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12580975, essv12580992, essv12580994, essv12580987, essv12580995, essv12580979, essv12581000, essv12580977, essv12580976, essv12580984, essv12580973, essv12580982, essv12580974, essv12580991, essv12580980, essv12580997, essv12580986, essv12580989, essv12580999, essv12580985, essv12580998, essv12581001, essv12580978, essv12580972, essv12580983, essv12580988, essv12580996, essv12580981, essv12580990, essv12580993
SamplesHG01885, HG03175, HG01079, HG03199, NA18519, NA19319, NA19315, NA19904, NA19917, NA18520, NA19025, HG03055, HG02439, HG03054, NA19175, NA19913, HG02953, NA19118, HG02256, NA19390, NA19454, HG02923, NA19439, HG03084, NA19248, HG02938, HG02851, HG03303, NA19431, HG02760
Known GenesLATS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611212
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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