A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613790



Internal ID7000685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77142736..77145431hg38UCSC Ensembl
Innerchr7:77142783..77145384hg38UCSC Ensembl
Outerchr7:77142689..77145478hg38UCSC Ensembl
chr7:76772053..76774748hg19UCSC Ensembl
Innerchr7:76772100..76774701hg19UCSC Ensembl
Outerchr7:76772006..76774795hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382696
hg192696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12855355, essv12855347, essv12855314, essv12855344, essv12855329, essv12855336, essv12855346, essv12855360, essv12855311, essv12855337, essv12855306, essv12855330, essv12855340, essv12855307, essv12855320, essv12855359, essv12855316, essv12855358, essv12855333, essv12855345, essv12855324, essv12855361, essv12855325, essv12855319, essv12855331, essv12855312, essv12855318, essv12855313, essv12855317, essv12855301, essv12855305, essv12855327, essv12855339, essv12855326, essv12855300, essv12855353, essv12855322, essv12855342, essv12855341, essv12855321, essv12855299, essv12855328, essv12855357, essv12855348, essv12855350, essv12855310, essv12855352, essv12855356, essv12855315, essv12855309, essv12855334, essv12855354, essv12855335, essv12855351, essv12855338, essv12855298, essv12855304, essv12855308, essv12855349, essv12855303, essv12855297, essv12855323, essv12855332, essv12855302, essv12855343
SamplesHG03096, HG02496, HG02628, HG02583, HG03548, NA19378, HG03517, NA18881, NA18877, NA19355, NA19377, HG03515, HG03139, HG03199, HG03436, NA18489, HG03370, HG02645, HG03578, NA19457, NA18498, HG02816, HG03209, NA19041, HG03520, HG02561, HG02461, NA19238, NA19024, NA19235, NA19026, HG02502, NA18864, NA19445, HG03511, HG03088, NA19327, HG03571, NA20282, HG02256, NA19225, NA19395, NA19035, NA18909, HG03367, NA19712, NA19454, HG02721, HG02611, HG03108, HG03103, HG03565, HG03442, HG01912, HG03097, HG02938, NA19713, NA18876, HG03162, NA19316, HG02851, HG02643, NA19214, HG03271, HG02760
Known GenesCCDC146
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613790
Frequency
Sample Size2504
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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